{"symbol":"PEX6","synonyms":["PAF2","PXAAA1","PDB4B","PAF-2","HMLR2","PBD4A"],"name":"peroxisomal biogenesis factor 6","description":"This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]","ncbiEntrezGeneId":5190,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5190","proteins":[{"symbol":"PEX6_HUMAN","href":"/api/1.0/protein/PEX6_HUMAN"}],"hgncRootFamilies":[{"name":"ATPases","href":"/api/1.0/gene_family/ATPases"}]}